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NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001824849.3

Allele description [Variation Report for NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)]

NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)

Gene:
LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)
HGVS:
  • NC_000011.10:g.65557856AGC[9]
  • NG_016437.1:g.5345CTG[9]
  • NM_001130144.3:c.76CTG[9]MANE SELECT
  • NM_001164266.1:c.-272CTG[9]
  • NM_021070.4:c.76CTG[9]
  • NP_001123616.1:p.Leu35del
  • NP_066548.2:p.Leu35del
  • NC_000011.9:g.65325326_65325328del
  • NC_000011.9:g.65325327AGC[9]
  • NM_001130144.2:c.103_105del
  • NM_001130144.2:c.103_105delCTG
Protein change:
L35del
Links:
dbSNP: rs71036212
NCBI 1000 Genomes Browser:
rs71036212
Molecular consequence:
  • NM_001164266.1:c.-272CTG[9] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130144.3:c.76CTG[9] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_021070.4:c.76CTG[9] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Brachyolmia-amelogenesis imperfecta syndrome
Synonyms:
Verloes Bourguignon syndrome; Skeletal dysplasia with amelogenesis imperfecta and platyspondyly; Amelogenesis imperfecta and platyspondyly; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011018; MedGen: C1832594; Orphanet: 2899; OMIM: 601216
Name:
Geleophysic dysplasia 3
Identifiers:
MONDO: MONDO:0054722; MedGen: C4540511; OMIM: 617809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075267GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075267.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 02-29-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 13, 2025